Variant report

Variant	rs4882442
Chromosome Location	chr12:82785973-82785974
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10219540	0.88[AFR][1000 genomes]
rs10732677	0.94[AFR][1000 genomes]
rs10735454	0.98[AFR][1000 genomes]
rs10735455	0.84[AFR][1000 genomes]
rs10746243	0.88[AFR][1000 genomes]
rs10746247	0.91[AFR][1000 genomes]
rs10746248	0.87[AFR][1000 genomes]
rs10746250	0.81[AFR][1000 genomes]
rs10746251	0.84[AFR][1000 genomes]
rs10778894	0.93[AFR][1000 genomes]
rs10778897	0.88[AFR][1000 genomes]
rs10778903	0.88[AFR][1000 genomes]
rs10778904	0.88[AFR][1000 genomes]
rs10778905	0.88[AFR][1000 genomes]
rs10778906	0.88[AFR][1000 genomes]
rs10778908	0.93[AFR][1000 genomes]
rs10862481	0.88[AFR][1000 genomes]
rs10862484	0.98[AFR][1000 genomes]
rs10862485	0.95[AFR][1000 genomes]
rs10862486	0.95[AFR][1000 genomes]
rs2401026	0.88[AFR][1000 genomes]
rs2401027	0.83[AFR][1000 genomes]
rs2401032	0.95[AFR][1000 genomes]
rs2401039	0.88[AFR][1000 genomes]
rs2642015	0.85[AFR][1000 genomes]
rs2717449	0.82[AFR][1000 genomes]
rs2731286	0.83[AFR][1000 genomes]
rs28626834	0.88[AFR][1000 genomes]
rs2895910	0.81[AFR][1000 genomes]
rs2895911	0.88[AFR][1000 genomes]
rs2895912	0.88[AFR][1000 genomes]
rs2895913	0.81[AFR][1000 genomes]
rs2895915	0.88[AFR][1000 genomes]
rs4143187	0.94[AFR][1000 genomes]
rs4242864	0.85[AFR][1000 genomes]
rs4257045	0.88[AFR][1000 genomes]
rs4296098	0.95[AFR][1000 genomes]
rs4334093	0.94[AFR][1000 genomes]
rs4343090	0.81[AFR][1000 genomes]
rs4356298	0.90[AFR][1000 genomes]
rs4370996	0.88[AFR][1000 genomes]
rs4399377	0.84[AFR][1000 genomes]
rs4417379	0.88[AFR][1000 genomes]
rs4460874	0.88[AFR][1000 genomes]
rs4505128	0.94[AFR][1000 genomes]
rs4516038	0.93[AFR][1000 genomes]
rs4517594	0.90[AFR][1000 genomes]
rs4540892	0.88[AFR][1000 genomes]
rs4553425	0.88[AFR][1000 genomes]
rs4587790	0.91[AFR][1000 genomes]
rs4628747	0.83[AFR][1000 genomes]
rs4882379	0.95[AFR][1000 genomes]
rs4882386	0.85[AFR][1000 genomes]
rs4882389	0.81[AFR][1000 genomes]
rs4882390	0.90[AFR][1000 genomes]
rs4882435	0.88[AFR][1000 genomes]
rs4882438	0.83[AFR][1000 genomes]
rs4882541	0.88[AFR][1000 genomes]
rs55887136	0.92[AFR][1000 genomes]
rs6539666	0.82[AFR][1000 genomes]
rs6539669	0.88[AFR][1000 genomes]
rs7294771	0.88[AFR][1000 genomes]
rs7294903	0.88[AFR][1000 genomes]
rs7297164	0.85[AFR][1000 genomes]
rs7299307	0.90[AFR][1000 genomes]
rs7299616	0.89[AFR][1000 genomes]
rs7309442	0.95[AFR][1000 genomes]
rs7313975	0.83[AFR][1000 genomes]
rs7316500	0.84[AFR][1000 genomes]
rs7954460	0.88[AFR][1000 genomes]
rs7977443	0.98[AFR][1000 genomes]
rs8181688	0.93[AFR][1000 genomes]
rs8181705	0.93[AFR][1000 genomes]
rs9804714	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559539	chr12:82280797-82896218	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1041954	chr12:82314981-83008609	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv541550	chr12:82314981-83008609	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv559541	chr12:82715210-83108395	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv899348	chr12:82744187-83169297	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv1841396	chr12:82768717-82881082	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:82753400-82786200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr12:82753600-82799800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:82753600-82805200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:82753800-82804800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:82754000-82794800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:82754000-82804600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:82754200-82803600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:82754400-82804000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:82754600-82794600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:82755600-82802200	Weak transcription	Pancreas	Pancrea
11	chr12:82758400-82795800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:82758400-82835600	Weak transcription	Psoas Muscle	Psoas
13	chr12:82758600-82799600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:82761600-82790600	Weak transcription	Brain Anterior Caudate	brain
15	chr12:82761800-82792000	Weak transcription	Stomach Mucosa	stomach
16	chr12:82764000-82801400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:82764200-82794000	Weak transcription	Placenta	Placenta
18	chr12:82768000-82791000	Weak transcription	Brain Angular Gyrus	brain
19	chr12:82768200-82786200	Weak transcription	Fetal Intestine Large	intestine
20	chr12:82768400-82811600	Weak transcription	Fetal Stomach	stomach
21	chr12:82769200-82804400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:82769200-82809200	Weak transcription	Lung	lung
23	chr12:82775800-82787800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:82777800-82787800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr12:82778200-82799400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:82778600-82794400	Weak transcription	Colon Smooth Muscle	Colon
27	chr12:82779800-82794400	Weak transcription	Brain Substantia Nigra	brain
28	chr12:82779800-82795400	Weak transcription	Fetal Kidney	kidney
29	chr12:82779800-82808000	Weak transcription	Brain Hippocampus Middle	brain
30	chr12:82780000-82786200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:82780000-82801000	Weak transcription	Fetal Heart	heart
32	chr12:82780200-82802000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr12:82780400-82810800	Weak transcription	Fetal Brain Male	brain
34	chr12:82780800-82795200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:82780800-82803200	Weak transcription	GM12878-XiMat	blood
36	chr12:82781600-82794800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr12:82782200-82806200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:82782400-82805400	Weak transcription	HSMM	muscle
39	chr12:82783000-82786800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:82783000-82787800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr12:82783000-82788400	Weak transcription	Adipose Nuclei	Adipose
42	chr12:82783000-82788600	Weak transcription	Ovary	ovary
43	chr12:82783000-82788800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr12:82783000-82790400	Weak transcription	Esophagus	oesophagus
45	chr12:82783000-82792000	Weak transcription	Fetal Intestine Small	intestine
46	chr12:82783000-82792600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr12:82783000-82792800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr12:82783000-82792800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr12:82783000-82800400	Weak transcription	Aorta	Aorta
50	chr12:82783000-82800400	Weak transcription	Monocytes-CD14+_RO01746	blood

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